Chromosome 2 (human)
Encyclopedia
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
s in human
Human
Humans are the only living species in the Homo genus...
s. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 237 million base pair
Base pair
In molecular biology and genetics, the linking between two nitrogenous bases on opposite complementary DNA or certain types of RNA strands that are connected via hydrogen bonds is called a base pair...
s (the building material of DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
) and representing almost 8% of the total DNA in cells
Cell (biology)
The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....
.
Identifying gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 2 likely contains 1,491 genes, including those of the HOXD homeobox
Homeobox
A homeobox is a DNA sequence found within genes that are involved in the regulation of patterns of anatomical development in animals, fungi and plants.- Discovery :...
gene cluster.
Evolution
All members of HominidaeHominidae
The Hominidae or include them .), as the term is used here, form a taxonomic family, including four extant genera: chimpanzees , gorillas , humans , and orangutans ....
except humans have 24 pairs of chromosomes. Humans have only 23 pairs of chromosomes. Human chromosome 2 is widely accepted to be a result of an end-to-end fusion of two ancestral chromosomes.
- The correspondence of chromosome 2 to two ape chromosomes. The closest human relative, the chimpanzeeChimpanzeeChimpanzee, sometimes colloquially chimp, is the common name for the two extant species of ape in the genus Pan. The Congo River forms the boundary between the native habitat of the two species:...
, has near-identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes. The same is true of the more distant gorillaGorillaGorillas are the largest extant species of primates. They are ground-dwelling, predominantly herbivorous apes that inhabit the forests of central Africa. Gorillas are divided into two species and either four or five subspecies...
and orangutanOrangutanOrangutans are the only exclusively Asian genus of extant great ape. The largest living arboreal animals, they have proportionally longer arms than the other, more terrestrial, great apes. They are among the most intelligent primates and use a variety of sophisticated tools, also making sleeping...
. - The presence of a vestigialVestigial structureVestigiality describes homologous characters of organisms that have seemingly lost all or most of their original function in a species through evolution. These may take various forms such as anatomical structures, behaviors and biochemical pathways. Some of these disappear early in embryonic...
centromereCentromereA centromere is a region of DNA typically found near the middle of a chromosome where two identical sister chromatids come closest in contact. It is involved in cell division as the point of mitotic spindle attachment...
. Normally a chromosome has just one centromere, but in chromosome 2 there are remnants of a second centromere. - The presence of vestigial telomereTelomereA telomere is a region of repetitive DNA sequences at the end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes. Its name is derived from the Greek nouns telos "end" and merοs "part"...
s. These are normally found only at the ends of a chromosome, but in chromosome 2 there are additional telomere sequences in the middle.
Chromosome 2 presents very strong evidence in favour of the common descent
Common descent
In evolutionary biology, a group of organisms share common descent if they have a common ancestor. There is strong quantitative support for the theory that all living organisms on Earth are descended from a common ancestor....
of humans and other ape
Ape
Apes are Old World anthropoid mammals, more specifically a clade of tailless catarrhine primates, belonging to the biological superfamily Hominoidea. The apes are native to Africa and South-east Asia, although in relatively recent times humans have spread all over the world...
s. According to researcher J. W. IJdo, "We conclude that the locus cloned in cosmids c8.1 and c29B is the relic of an ancient telomere-telomere fusion and marks the point at which two ancestral ape chromosomes fused to give rise to human chromosome 2."
Genes
Among the genes located on chromosome 2 are these:- ABCA12ABCA12ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene....
: ATP-binding cassette, sub-family A (ABC1), member 12 - ABCG5 and ABCG8ABCG5 and ABCG8ABCG5 and ABCG8 genes encode for two proteins sterolin-1 and -2, respectively. Sterolin-1 and –2 are two ‘half’ adenosine triphosphate binding cassette transporters which found to be indispensable for the regulation of sterol absorption and excretion...
: ATP-binding cassette, subfamily A, members 5 and 8 - AGXTAGXTSerine—pyruvate aminotransferase is an enzyme that in humans is encoded by the AGXT gene.-External links:* -Further reading:...
: alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase) - ALMS1ALMS1Alstrom syndrome 1 also known as ALMS1 is a protein which in humans is encoded by the ALMS1 gene.- Molecular biology :The gene is located on the short arm of chromosome 2 on the plus strand. It is 224,161 bases in length organised into 23 exons. The encoded protein has 4,167 amino acids and...
: Alstrom syndrome 1 - ALS2ALS2Alsin is a protein that in humans is encoded by the ALS2 gene. ALS2 orthologs have been identified in all mammals for which complete genome data are available.-External Links:** *...
: amyotrophic lateral sclerosis 2 (juvenile) - BMPR2BMPR2Bone morphogenetic protein receptor type II or BMPR2 is a serine/threonine receptor kinase. It binds Bone morphogenetic proteins, members of the TGF beta superfamily of ligands. BMPs are involved in a host of cellular functions including osteogenesis, cell growth and cell differentiation. Signaling...
: bone morphogenetic protein receptor, type II (serine/threonine kinase) - COL3A1: collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
- COL4A3COL4A3Collagen alpha-3 chain is a protein that in humans is encoded by the COL4A3 gene.-Further reading:...
: collagen, type IV, alpha 3 (Goodpasture antigen) - COL4A4COL4A4Collagen alpha-4 chain is a protein that in humans is encoded by the COL4A4 gene.-Further reading:...
: collagen, type IV, alpha 4 - COL5A2COL5A2Collagen alpha-2 chain is a protein that in humans is encoded by the COL5A2 gene.-External links:*...
: collagen, type V, alpha 2 - HADHAHADHAHADHA is a gene associated with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.-See also:* Mitochondrial trifunctional protein...
: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit - HADHBHADHBTrifunctional enzyme subunit beta, mitochondrial also known as 3-ketoacyl-CoA thiolase, acetyl-CoA acyltransferase, or beta-ketothiolase is an enzyme that in humans is encoded by the HADHB gene....
: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit - MSH2MSH2MSH2 is a gene commonly associated with Hereditary nonpolyposis colorectal cancer.-Interactions:MSH2 has been shown to interact with Exonuclease 1, MSH3, MSH6, CHEK2, MAX, Ataxia telangiectasia and Rad3 related and BRCA1.-Further reading:...
: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) - MSH6MSH6MSH6 is a gene commonly associated with hereditary nonpolyposis colorectal cancer.-Function:MSH6 contributes to ADP and ATP binding. It also contributes to ATPase activity...
: mutS homolog 6 (E. coli) - NCLNucleolinNucleolin is a protein that in humans is encoded by the NCL gene.- Gene :The human NCL gene is located on chromosome 2 and consists of 14 exons with 13 introns and spans approximately 11kb...
: Nucleolin - NR4A2: nuclear receptor subfamily 4, group A, member 2
- OTOFOTOFOtoferlin is a protein that in humans is encoded by the OTOF gene.-External links:* -Further reading:...
: otoferlin - PAX3PAX3PAX3 is a gene that belongs to the paired box family of transcription factors. This gene was formerly known as splotch. PAX3 has been identified with ear, eye and facial development. Mutations in it can cause Waardenburg syndrome types 1 and 3...
: paired box gene 3 (Waardenburg syndrome 1) - PAX8PAX8Paired box gene 8, also known as PAX8, is a protein which in humans is encoded by the PAX8 gene.- Function :This gene is a member of the paired box family of transcription factors. Members of this gene family typically encode proteins which contain a paired box domain, an octapeptide, and a...
: paired box gene 8 - PELI1PELI1Protein pellino homolog 1 is a protein that in humans is encoded by the PELI1 gene.-Further reading:...
: Ubiquitin ligaseUbiquitin ligaseA ubiquitin ligase is a protein that in combination with an E2 ubiquitin-conjugating enzyme causes the attachment of ubiquitin to a lysine on a target protein via an isopeptide bond; the E3 ubiquitin ligase targets specific protein substrates for degradation by the proteasome... - SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
- SSBSjogren syndrome antigen BSjögren syndrome type B antigen also known as Lupus La protein is a protein that in humans is encoded by the SSB gene.- Function :...
: Sjogren syndrome antigen B - TPOThyroid peroxidaseThyroid peroxidase or thyroperoxidase is an enzyme expressed mainly in the thyroid that liberates iodine for addition onto tyrosine residues on thyroglobulin for the production of thyroxine or triiodothyronine , thyroid hormones. In humans, thyroperoxidase is encoded by the TPO...
: thyroid peroxidase - TBR1TBR1T-box, brain, 1 is a protein that in humans is encoded by the TBR1 gene. This gene is also known by several other names: T-Brain 1, TBR-1, TES-56, and MGC141978. TBR1 is a member of the T-box family of transcription factors that share a common DNA-binding domain...
: T-boxT-boxT-box refers to a group of transcription factors involved in limb and heart development. In humans and some other animals, defects in the TBX5 gene expression can lead to finger-like thumbs and ventricular septal defects in which there is no separation between the left and right ventricle of the...
, brainBrainThe brain is the center of the nervous system in all vertebrate and most invertebrate animals—only a few primitive invertebrates such as sponges, jellyfish, sea squirts and starfishes do not have one. It is located in the head, usually close to primary sensory apparatus such as vision, hearing,...
, 1 - WDR35 (IFT121: TULP4): intraflagellar transport 121
Related diseases & disorders
The following diseases are related to genes located on chromosome 2:- 2p15-16.1 microdeletion syndrome
- AutismAutismAutism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. These signs all begin before a child is three years old. Autism affects information processing in the brain by altering how nerve cells and their...
- Alport syndromeAlport syndromeAlport syndrome or hereditary nephritis is a genetic disorder characterized by glomerulonephritis, endstage kidney disease, and hearing loss. Alport syndrome can also affect the eyes . The presence of blood in the urine is almost always found in this condition.It was first identified in a British...
- Alström syndromeAlstrom syndromeAlström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and over 501 known cases in 47 countries. It was first described by Carl-Henry Alström in...
- Amyotrophic lateral sclerosisAmyotrophic lateral sclerosisAmyotrophic lateral sclerosis , also referred to as Lou Gehrig's disease, is a form of motor neuron disease caused by the degeneration of upper and lower neurons, located in the ventral horn of the spinal cord and the cortical neurons that provide their efferent input...
- Amyotrophic lateral sclerosis, type 2
- Congenital hypothyroidismCongenital hypothyroidismCongenital hypothyroidism is a condition of thyroid hormone deficiency present at birth. Approximately 1 in 4000 newborn infants has a severe deficiency of thyroid function, while even more have mild or partial degrees. If untreated for several months after birth, severe congenital hypothyroidism...
- Ehlers–Danlos syndrome
- Ehlers–Danlos syndrome, classical type
- Ehlers–Danlos syndrome, vascular type
- Fibrodysplasia ossificans progressivaFibrodysplasia ossificans progressivaFibrodysplasia ossificans progressiva , sometimes referred to as Stone Man Syndrome, is an extremely rare disease of the connective tissue. A mutation of the body's repair mechanism causes fibrous tissue to be ossified when damaged. In many cases, injuries can cause joints to become permanently...
- Harlequin type ichthyosisHarlequin type ichthyosisHarlequin-type ichthyosis , a skin disease, is the most severe form of congenital ichthyosis, characterized by a thickening of the keratin layer in fetal human skin...
- Hemochromatosis
- Hemochromatosis, type 4
- Hereditary nonpolyposis colorectal cancerHereditary nonpolyposis colorectal cancerLynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin...
- Infantile-onset ascending hereditary spastic paralysis
- Juvenile primary lateral sclerosisJuvenile primary lateral sclerosisJuvenile primary lateral sclerosis , also known as primary lateral sclerois , is a rare genetic disorder, with a small number of reported cases, characterized by progressive weakness and stiffness of muscles in the arms, legs, and face...
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiencyLong-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiencyLong-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency, is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats into energy...
- Maturity onset diabetes of the youngMaturity onset diabetes of the youngMaturity onset diabetes of the young refers to any of several hereditary forms of diabetes caused by mutations in an autosomal dominant gene disrupting insulin production...
type 6 - Mitochondrial trifunctional protein deficiencyMitochondrial trifunctional protein deficiencyMitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats to energy, particularly during periods without food...
- Nonsyndromic deafnessNonsyndromic deafnessNonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
- Nonsyndromic deafness, autosomal recessive
- Primary hyperoxaluriaPrimary hyperoxaluriaPrimary hyperoxaluria results in increased excretion of oxalate, with oxalate stones being common. The oxalalate in these common conditions is derived from dietary sources or is secondary to malabsorption...
- Primary pulmonary hypertension
- SitosterolemiaSitosterolemiaSitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized by hyperabsorption and decreased biliary excretion of dietary sterols leading to hypercholesterolemia, tendon and tuberous xanthomas, premature development of atherosclerosis, and abnormal...
(knockout of either ABCG5 or ABCG8) - Sensenbrenner syndromeSensenbrenner syndromeSensenbrenner syndrome is a rare multisystem disease first described in 1975. It is inherited in an autosomal recessive fashion, and a number of genes appear to be responsible...
- SynesthesiaSynesthesiaSynesthesia , from the ancient Greek , "together," and , "sensation," is a neurologically based condition in which stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway...
- Waardenburg syndromeWaardenburg syndromeWaardenburg syndrome Waardenburg syndrome Waardenburg syndrome (also Waardenburg Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,[5] Van...